A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13161449



Internal ID3163265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:33443016..33446971hg38UCSC Ensembl
Innerchr8:33443020..33446968hg38UCSC Ensembl
Outerchr8:33443013..33446975hg38UCSC Ensembl
chr8:33300534..33304489hg19UCSC Ensembl
Innerchr8:33300538..33304486hg19UCSC Ensembl
Outerchr8:33300531..33304493hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg383956
hg193956
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616835
Supporting Variants
SamplesHG03945
Known GenesFUT10
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13161449
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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